Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens


Havasi V., Rowe S. M. , Kolettis P. N. , DAYANGAÇ ERDEN D., Sahin A. , Grangeia A., ...More

FERTILITY AND STERILITY, vol.94, no.6, pp.2122-2127, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 94 Issue: 6
  • Publication Date: 2010
  • Doi Number: 10.1016/j.fertnstert.2009.11.044
  • Title of Journal : FERTILITY AND STERILITY
  • Page Numbers: pp.2122-2127

Abstract

Objective: To investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We tested the hypothesis that polymorphisms of transforming growth factor (TGF)-beta 1 (rs 1982073, rs 1800471) and endothelin receptor type A (EDNRA) (rs 5335, rs 1801708) are associated with the CBAVD phenotype.